News Release

New genetic testing service for childhood eye cancer

Peer-Reviewed Publication

Women's and Children's Hospital, Adelaide - Part of the Children, Youth and Women's Health Service

Retinoblastoma is a rare malignant tumour affecting the eye which is curable if detected at an early stage.

This eye cancer can run in families and children who are at risk of developing the genetic form of retinoblastoma require frequent screening - as many as 13 separate examinations under general anaesthesia can been required over the first five years of life.

The emotional and financial burden to these families is enormous, and in response to this and the cost to the health service, the Ophthalmology Department at the Women's and Children's Hospital, in conjunction with the South Australian Familial Cancer Service and the Institute of Medical and Veterinary Science, has established a genetic testing service to look for the gene mutation which gives rise to the familial (inherited) form of retinoblastoma.

Visiting Ophthalmologist to the hospital, Dr James Muecke said, "Once we have identified the mutation in the affected child, we can then screen other family members for that mutation.

"If we don't find the mutation, the child is not at risk of developing retinoblastoma and won't need any further examinations under anaesthesia. But if we do find the mutation, the child will be at a very high risk of developing the tumour and so treatment can be planned and the family counselled.

"There are very few programs for this type of genetic testing in the world," he said.

Once the mutation is identified in a family, prenatal testing can also be carried out to see whether a baby in utero is at risk of developing the disease. The family may want to deliver the child earlier than normal and commence treatment if the baby carries the gene mutation.

Retinoblastoma occurs in approximately one in 18,000 children each year, developing at an average of 18 months of age. In about two thirds of patients only one eye is affected, but in one third tumours develop in both eyes.

There are 20 to 30 new cases of retinoblastoma diagnosed each year in Australia. However the disease has far more reaching effects as entire families are involved and it is not only the child with retinoblastoma that needs to be considered.

Testing for the mutation in the affected child is a labour intensive process and takes two to three months. Testing of other family members is usually much quicker.

Testing is not covered by Medicare. Some state governments provide support for this genetic testing, and in South Australia there is no charge to patients and their families.

When the service is not subsidised, the initial test costs $1100, and subsequent screening of family members costs $165 each. However, this is considerably less than the cost of 13 separate examinations for retinoblastoma under general anaesthetic, which may be in excess of $10,000.

Treatment for retinoblastoma is aimed at preserving life of the child and vision. The type of treatment will vary for each case, but may be treated by freezing techniques, chemotherapy, radiotherapy, laser therapy or surgery.

Over 95% of children will survive retinoblastoma and can have children of their own. For those children with familial retinoblastoma, there is a high risk that their children will develop the disease. The potential impact of retinoblastoma in the next generation means it is important to maintain contact with affected families over many years.

It is hoped, that publicity for this new genetic test will encourage people who have had retinoblastoma to seek current information, genetic counselling, and genetic testing.

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Interviews can be arranged with Dr James Muecke and a family who have benefited from this testing.

For interviews please contact:
Dr Edna Bates
Public Relations Officer
tel:( 618) 8204 7388
batese@wch.sa.gov.au
or
Mrs Chris Ostermann
Director of Media and Community Relations
mobile 0417 807 690
ostermannc@wch.sa.gov.au
Women's and Children's Hospital
http://www.wch.sa.gov.au


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